The Medical Genome Initiative has launched a webinar series to discuss relevant literature and hot topics around whole-genome sequencing (WGS) for rare disease. Presenters will review recent publications and hot topics and discuss complex cases where WGS played a valuable role in patient care.
August 9, 2023: Link to Recording Passcode: 05B?$TEbd&
- Title: Genome Sequencing for the Diagnosis of Rare Disease: Momentum in Access & Policy Change
- Speakers: Jessie Conta, PLUGS; Theresa Andrews, Illumina and Vaidehi Jobanputra, NY Genome Center
October 2022: Link to Recording Passcode: LG1Qvt.#..
- Title: Considerations for Next-Generation Sequencing Reanalysis
- Speakers: Pei Dai, MD, PhD and Jerica Lenberg, MS, LCGC
May 2022: Link to Recording Passcode: .w3QJpKJZs
- Title: Best Practices for Whole-Genome Sequencing Interpretation and Reporting
- Speakers: Christine Austin-Tse, PhD and Amanda Thomas-Wilson, PhD, FACMG
March 2022: Link to Recording Passcode: : r.T^aF4FD3
- Title: Discussion of real-world evidence demonstrating significant underutilization of genetic testing in children with suspected genetic disease and the role of the genetics community to improve utilization.
- Speakers: Brock Schroeder, PhD, Elizabeth Spiteri, PhD, and Robin Hayeems, PhD
October 2021: No Link Available
- Title: Review of the American College of Medical Genetics and Genomics Evidence-Based Guideline: Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability
- Speakers: Shashikant Kulkarni, MS, PhD, FACMG and Carolyn Brown, MS, LCGC
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